2025
Cancer genetics evaluation among individuals at risk for Lynch syndrome across all qualifying indications.
Singh V, Chen G, Sena A, Rafter T, Xicola R, Sharbatji M, Liu J, Brown Q, Brierley K, Healy C, Hughes M, Kashyap N, Llor X. Cancer genetics evaluation among individuals at risk for Lynch syndrome across all qualifying indications. Journal Of Clinical Oncology 2025, 43: 10616-10616. DOI: 10.1200/jco.2025.43.16_suppl.10616.Peer-Reviewed Original ResearchLynch syndromeInherited cancer syndromeFamily historyPersonal historyCancer syndromesFamily history of colorectal cancerColorectal cancerPersonal history of cancerFamily history of cancerYale New Haven Health SystemLS-related cancersGenetic testingLS-associated cancersCancer genetic evaluationAt-riskIdentification of at-risk individualsAt-risk individualsPathogenic variantsLS cancersComparison of categorical variablesIndividuals at-riskEO-CRCPearson chi-squareHealth systemDescriptive statisticsAt-risk cancer genetic syndrome identification (ARCAGEN-ID): Novel EHR integrated system to overcome disparities in identification and testing for cancer genetic syndromes.
Singh V, Chen G, Sena A, Rafter T, Xicola R, Sharbatji M, Liu J, Brown Q, Brierley K, Healy C, Hughes M, Kashyap N, Llor X. At-risk cancer genetic syndrome identification (ARCAGEN-ID): Novel EHR integrated system to overcome disparities in identification and testing for cancer genetic syndromes. Journal Of Clinical Oncology 2025, 43: 1600-1600. DOI: 10.1200/jco.2025.43.16_suppl.1600.Peer-Reviewed Original ResearchHereditary cancer syndromesOvercome disparitiesAt-riskGenetic testingHereditary cancer syndrome identificationCancer genetic syndromesPreventable cancer deathsMedicaid-insured individualsComplexity of guidelinesAt-risk individualsPathogenic variantsIndividuals at-riskNon-white individualsDecline testingLynch syndromeUnderserved populationsHealth systemNon-HispanicCancer syndromesChi-square testEligible individualsFamily historyInformational videoCancer deathGenetic counseling
2024
Reshaping immune cells and the antigen-specific repertoire by anti-CD3 mAb teplizumab in Type 1 diabetes
lledo delgado A, Preston-Hurlburt P, Currie S, Clark P, Herold K. Reshaping immune cells and the antigen-specific repertoire by anti-CD3 mAb teplizumab in Type 1 diabetes. The Journal Of Immunology 2024, 212: 0958_5059-0958_5059. DOI: 10.4049/jimmunol.212.supp.0958.5059.Peer-Reviewed Original ResearchCD8+ T cellsT cellsType 1 diabetesCD8+ T cell exhaustionAutoreactive CD8+ T cellsT cell exhaustionT cell changesCD8+ cellsProgression of type 1 diabetesAnti-CD3 mAbAntigen-specific repertoireAt-risk patientsCD8+CD4+Eomes expressionPeripheral bloodTeplizumabImmune cellsImmune regulationT1D diagnosisCD8Operational toleranceDelay progressionMonthsIndividuals at-riskDifferential expression of haptoglobin in individuals at clinical high risk of psychosis and its association with global functioning and clinical symptoms
Healy C, Byrne J, Raj Suasi S, Föcking M, Mongan D, Kodosaki E, Heurich M, Cagney G, Wynne K, Bearden C, Woods S, Cornblatt B, Mathalon D, Stone W, Cannon T, Addington J, Cadenhead K, Perkins D, Jeffries C, Cotter D. Differential expression of haptoglobin in individuals at clinical high risk of psychosis and its association with global functioning and clinical symptoms. Brain Behavior And Immunity 2024, 117: 175-180. PMID: 38219978, DOI: 10.1016/j.bbi.2023.12.018.Peer-Reviewed Original ResearchGlobal Assessment of Functioning ScaleNorth American Prodrome Longitudinal StudyClinical high riskPoor functionScale of Psychosis-risk SymptomsPsychosis-risk symptomsAssociated with poorer functioningFirst-episode psychosisTransition to psychosisGreater symptom severityFollow-upIndividuals at-riskClinical symptomsPsychotic disordersHigh riskSymptom severityPsychosocial functioningGlobal functioningPsychosisSubscale scoresFDR correctionAcute phase inflammatory responseLongitudinal studyGlobal assessmentFunctional scales
2022
Lower novelty-related locus coeruleus function is associated with Aβ-related cognitive decline in clinically healthy individuals
Prokopiou P, Engels-Domínguez N, Papp K, Scott M, Schultz A, Schneider C, Farrell M, Buckley R, Quiroz Y, El Fakhri G, Rentz D, Sperling R, Johnson K, Jacobs H. Lower novelty-related locus coeruleus function is associated with Aβ-related cognitive decline in clinically healthy individuals. Nature Communications 2022, 13: 1571. PMID: 35322012, PMCID: PMC8943159, DOI: 10.1038/s41467-022-28986-2.Peer-Reviewed Original ResearchConceptsCognitive declineLC activityLC-FCFunctional connectivityLocus coeruleusAssociated with altered neuronal activityNeuronal activityFace-name paradigmAD-related cognitive declineHuman imaging researchIn vivo neuronal activityLongitudinal cognitive dataAssociated with cognitive declineBeta-amyloid-PETIndividuals at-riskAlzheimer's diseaseCognitively unimpaired older individualsBeta-amyloidSubcortical regionsFunctional MRICognitive dataNeurofibrillary tauImaging researchHippocampusCognition
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